Article
In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics.
Clinical chemistry - 1 Nov 2004
Tchernitchko Dimitri, Goossens Michel, Wajcman Henri
Abstract excerpt
When a sequence variation is found in a candidate gene for a disease, it is important to establish whether this change is neutral or responsible for the observed disorders in a patient. To answer this question, in the absence of further experimental investigations, several simulation programs have been proposed to predict whether a nonsynonymous single-nucleotide polymorphism is likely to have or not have a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
